Canonical Allele Identifier: CA2695206188

Gene: CYP21A2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32041027_32041044dup , CM000668.2:g.32041027_32041044dup	GRCh38
NC_000006.11:g.32008804_32008821dup , CM000668.1:g.32008804_32008821dup	GRCh37
NC_000006.10:g.32116783_32116800dup	NCBI36
NG_007941.2:g.7720_7737dup
NG_008337.2:g.73339_73356dup
NG_007941.3:g.7723_7740dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.1381_1398dup MANE Select	ENSP00000496625.1:p.Pro466_His467insSerLeuGlnProLeuPro
ENST00000418967.6:c.1381_1398dup	ENSP00000408860.2:p.Pro466_His467insSerLeuGlnProLeuPro
ENST00000435122.3:c.1291_1308dup	ENSP00000415043.2:p.Pro436_His437insSerLeuGlnProLeuPro
ENST00000479074.5:n.1522_1539dup
ENST00000479730.5:n.1497_1514dup
ENST00000483041.5:n.1550_1567dup
ENST00000486063.5:n.1360_1377dup
NM_000500.7:c.1381_1398dup	NP_000491.4:p.Pro466_His467insSerLeuGlnProLeuPro
NM_001128590.3:c.1291_1308dup	NP_001122062.3:p.Pro436_His437insSerLeuGlnProLeuPro
XM_011514314.1:c.976_993dup	XP_011512616.1:p.Pro331_His332insSerLeuGlnProLeuPro
NM_000500.9:c.1381_1398dup MANE Select	NP_000491.4:p.Pro466_His467insSerLeuGlnProLeuPro
NM_001368143.1:c.976_993dup	NP_001355072.1:p.Pro331_His332insSerLeuGlnProLeuPro
NM_001368144.1:c.976_993dup	NP_001355073.1:p.Pro331_His332insSerLeuGlnProLeuPro
NM_001128590.4:c.1291_1308dup	NP_001122062.3:p.Pro436_His437insSerLeuGlnProLeuPro
NM_001368143.2:c.976_993dup	NP_001355072.1:p.Pro331_His332insSerLeuGlnProLeuPro
NM_001368144.2:c.976_993dup	NP_001355073.1:p.Pro331_His332insSerLeuGlnProLeuPro